Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17583 | chr9 | 130885649 | C | T |
c.3359C>T
|
p.Ser1120Leu
|
3.0 |
|
B | ||
| 6879 | chr9 | 130885656 | G | C |
c.3366G>C
|
p.Lys1122Asn
|
- | 3.0 |
|
B | |
| 3535 | chr9 | 131068994 | A | T |
c.2834A>T
|
p.Gln945Leu
|
- | 3.0 |
|
B | |
| 27747 | chr9 | 131129265 | ATT | A |
c.394-12_394-11del
|
-
|
- | 3.0 |
|
B | |
| 19574 | chr9 | 131132605 | G | GA |
c.681dup
|
p.Val228SerfsTer9
|
3.0 |
|
B | ||
| 20365 | chr9 | 131132605 | GA | G |
c.681del
|
p.Val228SerfsTer29
|
3.0 |
|
B | ||
| 15677 | chr9 | 131136015 | C | T |
c.1005+9C>T
|
-
|
- | 3.0 |
|
B | |
| 32947 | chr9 | 131139362 | A | G |
c.1087A>G
|
p.Met363Val
|
3.0 |
|
B | ||
| 27151 | chr9 | 131140614 | C | T |
c.1198C>T
|
p.Pro400Ser
|
- | 3.0 |
|
B | |
| 28590 | chr9 | 131140625 | G | A |
c.1209G>A
|
p.Met403Ile
|
- | 3.0 |
|
B | |
| 24419 | chr9 | 131144304 | C | T |
c.1319C>T
|
p.Ser440Phe
|
- | 3.0 |
|
B | |
| 22194 | chr9 | 131144592 | C | T |
c.1607C>T
|
p.Ala536Val
|
3.0 |
|
B | ||
| 12738 | chr9 | 131144606 | C | T |
c.1621C>T
|
p.Pro541Ser
|
3.0 |
|
B | ||
| 32408 | chr9 | 131146284 | C | G |
c.1925C>G
|
p.Ser642Ter
|
- | 3.0 |
|
B | |
| 20868 | chr9 | 131147475 | T | G |
c.1946-15T>G
|
-
|
- | 3.0 |
|
B | |
| 25887 | chr9 | 131150408 | G | A |
c.2125G>A
|
p.Glu709Lys
|
- | 3.0 |
|
B | |
| 4710 | chr9 | 131151732 | C | T |
c.2278-4C>T
|
-
|
- | 3.0 |
|
B | |
| 24161 | chr9 | 131151737 | C | T |
c.2279C>T
|
p.Ser760Leu
|
3.0 |
|
B | ||
| 33970 | chr9 | 131164144 | G | A |
c.2893G>A
|
p.Ala965Thr
|
- | 3.0 |
|
B | |
| 27978 | chr9 | 131174120 | A | G |
c.2959A>G
|
p.Thr987Ala
|
3.0 |
|
B |